PCDH15 and Usher syndrome: In a patient with Usher syndrome and a maternally inherited PCDH15 exonic deletion identified by CNV analysis on SRS data, LRS allowed a better characterization of the intragenic loss and the identification of a 4.6 Mb inversion on the paternal allele, generating two aberrant fusion transcripts, PCDH15-LINC00844 and BICC1-PCDH15 (Vaché et al., 2020).